11号染色体重复（q21至23延伸至qter）综合征 - Suppr

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超能文献

Duplication 11 (q21 to 23 leads to qter) syndrome.

作者信息

Francke U, Weber F, Sparkes R S, Mattson P D, Mann J

出版信息

Birth Defects Orig Artic Ser. 1977;13(3B):167-86.

PMID:890090

Abstract

摘要

相似文献

Duplication 11 (q21 to 23 leads to qter) syndrome.11号染色体重复（q21至23延伸至qter）综合征

Birth Defects Orig Artic Ser. 1977;13(3B):167-86.

Familial translocation between chromosomes of groups C and D (46, T(Cq-;Dq+).C组和D组染色体之间的家族性易位（46，T（Cq-；Dq+））

Sov Genet. 1974 Jun 1;8(5):651-7.

Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.一名来自平衡型父系易位的婴儿出现6q24重复导致6q末端异常。

Am J Med Genet. 1983 Feb;14(2):347-51. doi: 10.1002/ajmg.1320140214.

[The clinical picture of 13q22-qter duplication in a 2-year-old boy].[一名2岁男孩13q22-qter重复的临床症状]

Cesk Pediatr. 1987 Aug;42(8):477-9.

The dup(3q) syndrome: report of eight cases and review of the literature.dup(3q)综合征：8例报告及文献复习

Am J Med Genet. 1981;10(2):159-77. doi: 10.1002/ajmg.1320100210.

[2:12 (p25;q21) translocation classed at first as 2/X].[2:12（p25；q21）易位，最初归类为2/X]

Ann Genet. 1975 Mar;18(1):64-6.

Brief cytogenetic report on maternal translocation t(7;9) (p22:p13): two sibs with duplication 9p and one sib with the balanced translocation.关于母亲7号和9号染色体易位t(7;9)(p22:p13)的简要细胞遗传学报告：两名同胞有9号染色体短臂重复，一名同胞有平衡易位。

Am J Med Genet. 1985 Feb;20(2):265-9. doi: 10.1002/ajmg.1320200209.

[Cp trisomy: a new syndrome].[18号染色体三体：一种新综合征]

Ann Genet. 1971 Sep;14(3):177-86.

[Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)].[14号染色体长臂部分三体II型。——由于母亲的t(12; 14)(q24.4; q21)导致的14号染色体长臂部分三体]

Ann Genet. 1975 Mar;18(1):41-4.

Partial trisomy 9 in the case of familial translocation 8/9 mat.家族性8号/9号染色体母系易位情况下的9号染色体部分三体

Ann Genet. 1974 Sep;17(3):163-6.

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Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.一名患有多种先天性异常患者11号染色体长臂部分三体的分子细胞遗传学特征

Mol Cytogenet. 2022 Apr 19;15(1):17. doi: 10.1186/s13039-022-00595-0.

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.一个家族性罕见常染色体显性遗传性 cleidocranial dysplasia 中 RUNX2 基因的新剪接位点突变的鉴定。

Iran Biomed J. 2021 Jul 1;25(4):297-302. doi: 10.52547/ibj.25.4.297.

Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS.确定一对夫妇反复流产的原因：在二代测序时代核仁组织区的重要性

J Reprod Infertil. 2019 Apr-Jun;20(2):109-114.

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).对因家族性易位t(10;11)(q26;q23.3)导致的“纯合性”11q23.3 - qter三体或相互单体的同胞进行临床和分子评估。

Mol Cytogenet. 2014 Dec 24;7(1):101. doi: 10.1186/s13039-014-0101-8. eCollection 2014.

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.一名患有喉软化症和胼胝体发育不全的儿童存在54 Mb的11q末端重复和0.9 Mb的1q44缺失。

Mol Cytogenet. 2011 Sep 21;4:19. doi: 10.1186/1755-8166-4-19.

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.先天性膈疝伴11q23-qter重复。

Am J Med Genet A. 2006 Jul 15;140(14):1580-6. doi: 10.1002/ajmg.a.31321.

Cleidocranial dysplasia: clinical and molecular genetics.锁骨颅骨发育不全：临床与分子遗传学

J Med Genet. 1999 Mar;36(3):177-82.

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.由于家族性t(11;13)易位，一代中至少出现9例11q23→qter三体病例。

J Med Genet. 1997 Jan;34(1):18-23. doi: 10.1136/jmg.34.1.18.

Absence makes the search grow longer.求之不得，寤寐思服。

Am J Hum Genet. 1996 Jan;58(1):7-16.

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.锁骨颅骨发育不全基因定位于6号染色体短臂。

Am J Hum Genet. 1995 Apr;56(4):938-43.

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